Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report

Abstract

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the <i>WDR73</i> gene, and more recently, four new pathogenic genes, <i>OSGEP, LAGE3, TP53RK,</i> and <i>TPRKB</i>, have been identified. In the present study, we report a new mutation of c.290T&gt;G (p.L97R) <i>LAGE3</i> in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: <i>TRPC6</i> and <i>NUP160</i>, make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the <i>LAGE3</i> gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care.